Incidental Mutation 'R3438:Lhx4'
ID |
267267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lhx4
|
Ensembl Gene |
ENSMUSG00000026468 |
Gene Name |
LIM homeobox protein 4 |
Synonyms |
Gsh4, Gsh-4, A330062J17Rik |
MMRRC Submission |
040656-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
155573777-155627430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155578230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 304
(D304V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027740]
[ENSMUST00000195275]
|
AlphaFold |
P53776 |
PDB Structure |
The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027740
AA Change: D304V
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000027740 Gene: ENSMUSG00000026468 AA Change: D304V
Domain | Start | End | E-Value | Type |
LIM
|
29 |
80 |
3.39e-17 |
SMART |
LIM
|
88 |
143 |
2.76e-17 |
SMART |
HOX
|
157 |
219 |
5.79e-23 |
SMART |
low complexity region
|
306 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195275
|
SMART Domains |
Protein: ENSMUSP00000141662 Gene: ENSMUSG00000026468
Domain | Start | End | E-Value | Type |
LIM
|
27 |
82 |
1.3e-19 |
SMART |
HOX
|
96 |
158 |
2.8e-25 |
SMART |
|
Meta Mutation Damage Score |
0.0769 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010] PHENOTYPE: Mutations in this gene result in abnormal lung development and neonatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
Aoah |
G |
A |
13: 21,101,242 (GRCm39) |
R254K |
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,088,966 (GRCm39) |
E358G |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
Or4c114 |
T |
C |
2: 88,904,707 (GRCm39) |
I243V |
probably benign |
Het |
Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,455 (GRCm39) |
S485G |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
probably damaging |
Het |
|
Other mutations in Lhx4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02366:Lhx4
|
APN |
1 |
155,580,934 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02516:Lhx4
|
APN |
1 |
155,578,003 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02806:Lhx4
|
APN |
1 |
155,577,975 (GRCm39) |
missense |
probably benign |
0.22 |
IGL03104:Lhx4
|
APN |
1 |
155,580,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R3434:Lhx4
|
UTSW |
1 |
155,578,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R4369:Lhx4
|
UTSW |
1 |
155,580,560 (GRCm39) |
missense |
probably benign |
0.01 |
R4392:Lhx4
|
UTSW |
1 |
155,585,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4875:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5937:Lhx4
|
UTSW |
1 |
155,586,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Lhx4
|
UTSW |
1 |
155,578,300 (GRCm39) |
missense |
probably benign |
0.00 |
R6694:Lhx4
|
UTSW |
1 |
155,580,456 (GRCm39) |
missense |
probably benign |
0.05 |
R7212:Lhx4
|
UTSW |
1 |
155,600,699 (GRCm39) |
missense |
probably benign |
0.01 |
R7418:Lhx4
|
UTSW |
1 |
155,586,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R7653:Lhx4
|
UTSW |
1 |
155,580,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7900:Lhx4
|
UTSW |
1 |
155,617,709 (GRCm39) |
intron |
probably benign |
|
R8210:Lhx4
|
UTSW |
1 |
155,586,214 (GRCm39) |
splice site |
probably null |
|
R8510:Lhx4
|
UTSW |
1 |
155,578,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R8889:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8892:Lhx4
|
UTSW |
1 |
155,581,013 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9300:Lhx4
|
UTSW |
1 |
155,580,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R9322:Lhx4
|
UTSW |
1 |
155,578,353 (GRCm39) |
missense |
probably benign |
0.00 |
R9532:Lhx4
|
UTSW |
1 |
155,586,024 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lhx4
|
UTSW |
1 |
155,581,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTGGGCTAGTTGGAAAATC -3'
(R):5'- CCTGGGCACTGACAATAAATCTC -3'
Sequencing Primer
(F):5'- TACACTGCTTCCTGTCGAGAGG -3'
(R):5'- GGGCACTGACAATAAATCTCCGTTC -3'
|
Posted On |
2015-02-18 |